Variants in RABL2A causing male infertility and ciliopathy
نویسندگان
چکیده
منابع مشابه
The role of MMP9 C-1562T and MMP2 G1575A genetic variants in male infertility: review article
Infertility as a vital process in human reproduction involves many couples worldwide. Although many genetic causes of infertility are known, the genetic basis of infertility in men is largely unknown. Therefore, the identification of genetic biomarkers in this field is important and genetic polymorphisms in key genes of the spermatogenesis pathway can be valuable biomarkers in this field. Gene'...
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The clinical definition of male infertility is the presence of abnormal semen parameters in the male partner of a couple who have been unable to conceive after 1 year of unprotected intercourse (Dohle 2010). The World Health Organization defines male factor infertility as the presence of one or more abnormalities in the semen analysis, or the presence of inadequate sexual or ejaculatory functio...
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Luteinizing hormone (LH) stimulates the interstitial Leydig cells to produce testosterone, which is essential for spermatogenesis. Abnormalities in the function of LH may affect the process of spermatogenesis and thus result in infertility. The aim of this study was to determine the association of three known variants of LH (Gln54Arg [Trp8Arg; Ile15Thr] and Gly102Ser) with male infertility. A t...
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Male are the sole cause of infertility in approximately 20% of infertile couples and are an important contributing factor in another 20-40% of couples with reproductive failure. Male infertility can result from a variety of causes. Some, like ductal obstruction and hypogonadotropic hypogonadism, can be accurately defined and effectively treated. Genetic abnormalities can cause infertility by in...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2020
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddaa230